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Entry version 180 (18 Sep 2019)
Sequence version 4 (02 Nov 2010)
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Protein

Protein kinase C-binding protein NELL1

Gene

NELL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Plays a role in the control of cell growth and differentiation. Promotes osteoblast cell differentiation and terminal mineralization.1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processDifferentiation
LigandCalcium

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Protein kinase C-binding protein NELL1
Alternative name(s):
NEL-like protein 1
Nel-related protein 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:NELL1
Synonyms:NRP1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:7750 NELL1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
602319 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q92832

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus, Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...
DisGeNETi
4745

Open Targets

More...
OpenTargetsi
ENSG00000165973

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA31552

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
NELL1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
311033486

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 21Sequence analysisAdd BLAST21
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000766422 – 810Protein kinase C-binding protein NELL1Add BLAST789

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi40N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi53N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi83N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi224N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi294N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi372N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi395 ↔ 407PROSITE-ProRule annotation
Disulfide bondi401 ↔ 416PROSITE-ProRule annotation
Disulfide bondi418 ↔ 432PROSITE-ProRule annotation
Disulfide bondi438 ↔ 451PROSITE-ProRule annotation
Disulfide bondi445 ↔ 460PROSITE-ProRule annotation
Disulfide bondi462 ↔ 474PROSITE-ProRule annotation
Disulfide bondi480 ↔ 493PROSITE-ProRule annotation
Disulfide bondi487 ↔ 502PROSITE-ProRule annotation
Disulfide bondi504 ↔ 515PROSITE-ProRule annotation
Glycosylationi511N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi519 ↔ 529PROSITE-ProRule annotation
Disulfide bondi523 ↔ 535PROSITE-ProRule annotation
Disulfide bondi537 ↔ 546PROSITE-ProRule annotation
Disulfide bondi553 ↔ 566PROSITE-ProRule annotation
Disulfide bondi560 ↔ 575PROSITE-ProRule annotation
Glycosylationi562N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi577 ↔ 594PROSITE-ProRule annotation
Disulfide bondi600 ↔ 613PROSITE-ProRule annotation
Disulfide bondi607 ↔ 622PROSITE-ProRule annotation
Glycosylationi609N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi624 ↔ 630PROSITE-ProRule annotation
Glycosylationi708N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi732N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi758N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q92832

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q92832

PeptideAtlas

More...
PeptideAtlasi
Q92832

PRoteomics IDEntifications database

More...
PRIDEi
Q92832

ProteomicsDB human proteome resource

More...
ProteomicsDBi
75509 [Q92832-1]
75510 [Q92832-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q92832

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q92832

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q92832

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000165973 Expressed in 116 organ(s), highest expression level in stomach

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q92832 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q92832 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA051535

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homotrimer. Binds to PKC beta-1 (By similarity).

Interacts with ATRAID; the interaction promotes osteoblast cell differentiation and mineralization.

By similarity1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
ATRAIDQ6UW564EBI-947754,EBI-723802

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
110820, 26 interactors

Protein interaction database and analysis system

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IntActi
Q92832, 39 interactors

Molecular INTeraction database

More...
MINTi
Q92832

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000298925

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q92832

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini64 – 227Laminin G-likeAdd BLAST164
Domaini271 – 332VWFC 1PROSITE-ProRule annotationAdd BLAST62
Domaini434 – 475EGF-like 1; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini476 – 516EGF-like 2; calcium-bindingPROSITE-ProRule annotationAdd BLAST41
Domaini517 – 547EGF-like 3PROSITE-ProRule annotationAdd BLAST31
Domaini549 – 587EGF-like 4; calcium-bindingPROSITE-ProRule annotationAdd BLAST39
Domaini596 – 631EGF-like 5; calcium-bindingPROSITE-ProRule annotationAdd BLAST36
Domaini692 – 750VWFC 2PROSITE-ProRule annotationAdd BLAST59

Keywords - Domaini

EGF-like domain, Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IR7C Eukaryota
ENOG410XSZA LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00810000125439

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000217920

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q92832

Database of Orthologous Groups

More...
OrthoDBi
767046at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q92832

TreeFam database of animal gene trees

More...
TreeFami
TF323325

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR013320 ConA-like_dom_sf
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR000152 EGF-type_Asp/Asn_hydroxyl_site
IPR018097 EGF_Ca-bd_CS
IPR024731 EGF_dom
IPR009030 Growth_fac_rcpt_cys_sf
IPR001791 Laminin_G
IPR001007 VWF_dom

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF12947 EGF_3, 1 hit
PF07645 EGF_CA, 3 hits
PF00093 VWC, 2 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00181 EGF, 6 hits
SM00179 EGF_CA, 5 hits
SM00282 LamG, 1 hit
SM00210 TSPN, 1 hit
SM00214 VWC, 4 hits
SM00215 VWC_out, 2 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF49899 SSF49899, 1 hit
SSF57184 SSF57184, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00010 ASX_HYDROXYL, 3 hits
PS00022 EGF_1, 1 hit
PS01186 EGF_2, 3 hits
PS50026 EGF_3, 5 hits
PS01187 EGF_CA, 3 hits
PS01208 VWFC_1, 2 hits
PS50184 VWFC_2, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q92832-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MPMDLILVVW FCVCTARTVV GFGMDPDLQM DIVTELDLVN TTLGVAQVSG
60 70 80 90 100
MHNASKAFLF QDIEREIHAA PHVSEKLIQL FRNKSEFTIL ATVQQKPSTS
110 120 130 140 150
GVILSIRELE HSYFELESSG LRDEIRYHYI HNGKPRTEAL PYRMADGQWH
160 170 180 190 200
KVALSVSASH LLLHVDCNRI YERVIDPPDT NLPPGINLWL GQRNQKHGLF
210 220 230 240 250
KGIIQDGKII FMPNGYITQC PNLNHTCPTC SDFLSLVQGI MDLQELLAKM
260 270 280 290 300
TAKLNYAETR LSQLENCHCE KTCQVSGLLY RDQDSWVDGD HCRNCTCKSG
310 320 330 340 350
AVECRRMSCP PLNCSPDSLP VHIAGQCCKV CRPKCIYGGK VLAEGQRILT
360 370 380 390 400
KSCRECRGGV LVKITEMCPP LNCSEKDHIL PENQCCRVCR GHNFCAEGPK
410 420 430 440 450
CGENSECKNW NTKATCECKS GYISVQGDSA YCEDIDECAA KMHYCHANTV
460 470 480 490 500
CVNLPGLYRC DCVPGYIRVD DFSCTEHDEC GSGQHNCDEN AICTNTVQGH
510 520 530 540 550
SCTCKPGYVG NGTICRAFCE EGCRYGGTCV APNKCVCPSG FTGSHCEKDI
560 570 580 590 600
DECSEGIIEC HNHSRCVNLP GWYHCECRSG FHDDGTYSLS GESCIDIDEC
610 620 630 640 650
ALRTHTCWND SACINLAGGF DCLCPSGPSC SGDCPHEGGL KHNGQVWTLK
660 670 680 690 700
EDRCSVCSCK DGKIFCRRTA CDCQNPSADL FCCPECDTRV TSQCLDQNGH
710 720 730 740 750
KLYRSGDNWT HSCQQCRCLE GEVDCWPLTC PNLSCEYTAI LEGECCPRCV
760 770 780 790 800
SDPCLADNIT YDIRKTCLDS YGVSRLSGSV WTMAGSPCTT CKCKNGRVCC
810
SVDFECLQNN
Length:810
Mass (Da):89,635
Last modified:November 2, 2010 - v4
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i15E09F9954DA8629
GO
Isoform 2 (identifier: Q92832-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     549-595: Missing.

Show »
Length:763
Mass (Da):84,377
Checksum:i995411ADB36FAD7D
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3KNC5J3KNC5_HUMAN
NEL-like 1 (Chicken), isoform CRA_a
NELL1 hCG_1811036
838Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H6I3F5H6I3_HUMAN
Protein kinase C-binding protein NE...
NELL1
753Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAB06946 differs from that shown. Reason: Frameshift at positions 426 and 771.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti383N → D in AAB06946 (Ref. 7) Curated1
Sequence conflicti573Y → H in AAB06946 (Ref. 7) Curated1
Sequence conflicti626S → C in AAB06946 (Ref. 7) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_04782882R → Q4 PublicationsCorresponds to variant dbSNP:rs8176785Ensembl.1
Natural variantiVAR_047829211F → V. Corresponds to variant dbSNP:rs35809043Ensembl.1
Natural variantiVAR_047830287V → I. Corresponds to variant dbSNP:rs11820003Ensembl.1
Natural variantiVAR_020167354R → W. Corresponds to variant dbSNP:rs8176786Ensembl.1
Natural variantiVAR_035834553C → F in a colorectal cancer sample; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_039954549 – 595Missing in isoform 2. 1 PublicationAdd BLAST47

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
D83017 mRNA Translation: BAA11680.1
AK313445 mRNA Translation: BAG36234.1
EU518937 Genomic DNA Translation: ACB21040.1
AC010811 Genomic DNA No translation available.
AC067794 Genomic DNA No translation available.
AC069575 Genomic DNA No translation available.
AC087279 Genomic DNA No translation available.
AC090707 Genomic DNA No translation available.
AC090857 Genomic DNA No translation available.
AC099730 Genomic DNA No translation available.
AC105190 Genomic DNA No translation available.
AC108460 Genomic DNA No translation available.
CH471064 Genomic DNA Translation: EAW68328.1
BC069674 mRNA Translation: AAH69674.1
BC096100 mRNA Translation: AAH96100.1
BC096101 mRNA Translation: AAH96101.1
BC096102 mRNA Translation: AAH96102.1
U57523 mRNA Translation: AAB06946.1 Frameshift.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS44555.1 [Q92832-2]
CCDS7855.1 [Q92832-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001275642.1, NM_001288713.1
NP_001275643.1, NM_001288714.1
NP_006148.2, NM_006157.4 [Q92832-1]
NP_963845.1, NM_201551.2 [Q92832-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000357134; ENSP00000349654; ENSG00000165973 [Q92832-1]
ENST00000532434; ENSP00000437170; ENSG00000165973 [Q92832-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
4745

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:4745

UCSC genome browser

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UCSCi
uc001mqe.5 human [Q92832-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D83017 mRNA Translation: BAA11680.1
AK313445 mRNA Translation: BAG36234.1
EU518937 Genomic DNA Translation: ACB21040.1
AC010811 Genomic DNA No translation available.
AC067794 Genomic DNA No translation available.
AC069575 Genomic DNA No translation available.
AC087279 Genomic DNA No translation available.
AC090707 Genomic DNA No translation available.
AC090857 Genomic DNA No translation available.
AC099730 Genomic DNA No translation available.
AC105190 Genomic DNA No translation available.
AC108460 Genomic DNA No translation available.
CH471064 Genomic DNA Translation: EAW68328.1
BC069674 mRNA Translation: AAH69674.1
BC096100 mRNA Translation: AAH96100.1
BC096101 mRNA Translation: AAH96101.1
BC096102 mRNA Translation: AAH96102.1
U57523 mRNA Translation: AAB06946.1 Frameshift.
CCDSiCCDS44555.1 [Q92832-2]
CCDS7855.1 [Q92832-1]
RefSeqiNP_001275642.1, NM_001288713.1
NP_001275643.1, NM_001288714.1
NP_006148.2, NM_006157.4 [Q92832-1]
NP_963845.1, NM_201551.2 [Q92832-2]

3D structure databases

SMRiQ92832
ModBaseiSearch...

Protein-protein interaction databases

BioGridi110820, 26 interactors
IntActiQ92832, 39 interactors
MINTiQ92832
STRINGi9606.ENSP00000298925

PTM databases

iPTMnetiQ92832
PhosphoSitePlusiQ92832
SwissPalmiQ92832

Polymorphism and mutation databases

BioMutaiNELL1
DMDMi311033486

Proteomic databases

MassIVEiQ92832
PaxDbiQ92832
PeptideAtlasiQ92832
PRIDEiQ92832
ProteomicsDBi75509 [Q92832-1]
75510 [Q92832-2]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
4745
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000357134; ENSP00000349654; ENSG00000165973 [Q92832-1]
ENST00000532434; ENSP00000437170; ENSG00000165973 [Q92832-2]
GeneIDi4745
KEGGihsa:4745
UCSCiuc001mqe.5 human [Q92832-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
4745
DisGeNETi4745

GeneCards: human genes, protein and diseases

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GeneCardsi
NELL1
HGNCiHGNC:7750 NELL1
HPAiHPA051535
MIMi602319 gene
neXtProtiNX_Q92832
OpenTargetsiENSG00000165973
PharmGKBiPA31552

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiENOG410IR7C Eukaryota
ENOG410XSZA LUCA
GeneTreeiENSGT00810000125439
HOGENOMiHOG000217920
InParanoidiQ92832
OrthoDBi767046at2759
PhylomeDBiQ92832
TreeFamiTF323325

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
NELL1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
NELL1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
4745

Pharos

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Pharosi
Q92832

Protein Ontology

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PROi
PR:Q92832

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000165973 Expressed in 116 organ(s), highest expression level in stomach
ExpressionAtlasiQ92832 baseline and differential
GenevisibleiQ92832 HS

Family and domain databases

InterProiView protein in InterPro
IPR013320 ConA-like_dom_sf
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR000152 EGF-type_Asp/Asn_hydroxyl_site
IPR018097 EGF_Ca-bd_CS
IPR024731 EGF_dom
IPR009030 Growth_fac_rcpt_cys_sf
IPR001791 Laminin_G
IPR001007 VWF_dom
PfamiView protein in Pfam
PF12947 EGF_3, 1 hit
PF07645 EGF_CA, 3 hits
PF00093 VWC, 2 hits
SMARTiView protein in SMART
SM00181 EGF, 6 hits
SM00179 EGF_CA, 5 hits
SM00282 LamG, 1 hit
SM00210 TSPN, 1 hit
SM00214 VWC, 4 hits
SM00215 VWC_out, 2 hits
SUPFAMiSSF49899 SSF49899, 1 hit
SSF57184 SSF57184, 1 hit
PROSITEiView protein in PROSITE
PS00010 ASX_HYDROXYL, 3 hits
PS00022 EGF_1, 1 hit
PS01186 EGF_2, 3 hits
PS50026 EGF_3, 5 hits
PS01187 EGF_CA, 3 hits
PS01208 VWFC_1, 2 hits
PS50184 VWFC_2, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiNELL1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q92832
Secondary accession number(s): B2CKC1
, Q4VB90, Q4VB91, Q6NSY8, Q9Y472
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 2, 2010
Last modified: September 18, 2019
This is version 180 of the entry and version 4 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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